Variant report
| Variant | esv3424952 |
|---|---|
| Chromosome Location | chr8:65141546-65141925 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs189061693 | chr8:65141548-65141549 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs200444610 | chr8:65141579-65141580 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs201519728 | chr8:65141582-65141583 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs375088328 | chr8:65141584-65141585 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs59598255 | chr8:65141597-65141598 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs200685989 | chr8:65141598-65141599 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs78347451 | chr8:65141600-65141601 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs201639965 | chr8:65141602-65141603 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs200029995 | chr8:65141604-65141605 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs200806123 | chr8:65141606-65141607 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs202088120 | chr8:65141608-65141609 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs536491084 | chr8:65141676-65141677 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs72652648 | chr8:65141697-65141698 | Weak transcription | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 14 | rs140677659 | chr8:65141775-65141776 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs375359484 | chr8:65141782-65141783 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs537144629 | chr8:65141829-65141830 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs376743136 | chr8:65141850-65141851 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs558656878 | chr8:65141874-65141875 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs141167188 | chr8:65141884-65141885 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs77155333 | chr8:65141885-65141886 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs374572173 | chr8:65141886-65141887 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs59511084 | chr8:65141911-65141912 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs201449346 | chr8:65141913-65141914 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs199667691 | chr8:65141915-65141916 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 25 | rs58555447 | chr8:65141917-65141918 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 26 | rs61239665 | chr8:65141919-65141920 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
| 27 | rs200572607 | chr8:65141921-65141922 | Weak transcription | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:95)
| Disease | PMID | Source |
|---|---|---|
| Cancer | 16751803 | CNVD |
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Wilms tumour | 21544195 | CNVD |
| Gastric cancer | 17908304 | CNVD |
| Melanoma | 18172304 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Autism | 19415332 | CNVD |
| Malaria | 21533027 | CNVD |
| Non-syndromic sensorineural hearing loss | 22037309 | CNVD |
| Esophageal cancer | 21851588 | CNVD |
| Acute promyelocytic leukemia | 19109227 | CNVD |
| Breast cancer | 21245420 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Liver carcinoma | 19366792 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Seminomas | 18059402 | CNVD |
| Autism | 22495311 | CNVD |
| Acute lymphoblastic leukemia | 21390130 | CNVD |
| Pancreatic cancer | 21811587 | CNVD |
| Thyroid cancer | 19087340 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Breast cancer | 17603634 | CNVD |
| Disorders of sex development | 21048976 | CNVD |
| Testicular cancer | 18059402 | CNVD |
| Acute lymphoblastic leukemia | 22237106 | CNVD |
| Breast cancer | 17133270 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| Breast cancer | 21858162 | CNVD |
| Acute lymphoblastic leukemia | 20435627 | CNVD |
| Acute lymphoblastic leukemia | 21248843 | CNVD |
| Cancer | 20164919 | CNVD |
| primary effusion lymphomas | 17116491 | CNVD |
| Esophageal cancer | 20955586 | CNVD |
| Multiple myeloma | 16461302 | CNVD |
| abnormal development | 18461090 | CNVD |
| Cancer | 20164920 | CNVD |
| Oral cancer | 21386901 | CNVD |
| Uveal melanoma | 21693616 | CNVD |
| Langer-Giedion syndrome | 22283845 | CNVD |
| Cancer | 21637783 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Breast cancer | 20632083 | CNVD |
| Breast cancer | 19602461 | CNVD |
| Cancer | 22429812 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Glioblastoma multiforme | 19960244 | CNVD |
| Hepatocellular carcinoma | 22174799 | CNVD |
| Oral cancer | 19627613 | CNVD |
| Prostate cancer | 21088497 | CNVD |
| colon cancer | 17210682 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Breast cancer | 22028636 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Salivary gland tumor | 18059337 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Gastric cancer | 17167181 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Breast cancer | 16461572 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Medulloblastoma | 16968546 | CNVD |
| head and neck squamous cell carcinoma | 18028549 | CNVD |
| Breast cancer | 17001317 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Acute myeloid leukemia | 21251322 | CNVD |
| Breast cancer | 16608533 | CNVD |
| Metanephric adenoma | 20802469 | CNVD |
| Hepatocellular carcinoma | 18803288 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Glioblastoma multiforme | 18628472 | CNVD |
| Ovarian cancer | 22174824 | CNVD |
| Prostate cancer | 16573809 | CNVD |
| Malignant peripheral nerve sheath tumor | 18522746 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Melanoma | 22183965 | CNVD |
| Cancer | 21949371 | CNVD |
| Non-small cell lung cancer | 21829676 | CNVD |
| Myeloproliferative neoplasm | 20015882 | CNVD |
| Non-syndromic sensorineural hearing loss | 15273396 | CNVD |
| Acute myeloid leukemia | 21358987 | CNVD |
| Carcinoma ex pleomorphic adenoma | 18828159 | CNVD |
| Adenocarcinoma | 21044232 | CNVD |
| Squamous cell cancer | 20885788 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Sezary syndrome | 18413736 | CNVD |
| Colorectal cancer | 21645411 | CNVD |
| T-cell prolymphocytic leukemia | 17713554 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:65139200-65146000 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
